SNP Links for Nucleotide (Select 290463101) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:63629526 (GRCh38)
1:64095197 (GRCh37)
Canonical SPDI:: NC_000001.11:63629525:C:T
Gene:: PGM1 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.63629526C>T, NC_000001.10:g.64095197C>T, NG_016966.1:g.41251C>T, NM_002633.3:c.348C>T, NM_002633.2:c.348C>T, NM_001172819.2:c.-244C>T, NM_001172819.1:c.-244C>T, NM_001172818.1:c.402C>T

Select item 14863263666.

rs1486326366 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:63638786 (GRCh38)
1:64104457 (GRCh37)
Canonical SPDI:: NC_000001.11:63638785:A:G
Gene:: PGM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.63638786A>G, NC_000001.10:g.64104457A>G, NG_016966.1:g.50511A>G, NM_002633.3:c.1130A>G, NM_002633.2:c.1130A>G, NM_001172819.2:c.539A>G, NM_001172819.1:c.539A>G, NM_001172818.1:c.1184A>G, NP_002624.2:p.Glu377Gly, NP_001166290.1:p.Glu180Gly, NP_001166289.1:p.Glu395Gly

Select item 14839134717.

rs1483913471 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:63638744 (GRCh38)
1:64104415 (GRCh37)
Canonical SPDI:: NC_000001.11:63638743:G:A
Gene:: PGM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.63638744G>A, NC_000001.10:g.64104415G>A, NG_016966.1:g.50469G>A, NM_002633.3:c.1088G>A, NM_002633.2:c.1088G>A, NM_001172819.2:c.497G>A, NM_001172819.1:c.497G>A, NM_001172818.1:c.1142G>A, NP_002624.2:p.Gly363Glu, NP_001166290.1:p.Gly166Glu, NP_001166289.1:p.Gly381Glu

Select item 14824282398.

rs1482428239 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:63659595 (GRCh38)
1:64125266 (GRCh37)
Canonical SPDI:: NC_000001.11:63659594:G:A
Gene:: PGM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.63659595G>A, NC_000001.10:g.64125266G>A, NG_016966.1:g.71320G>A, NM_002633.3:c.1609G>A, NM_002633.2:c.1609G>A, NM_001172819.2:c.1018G>A, NM_001172819.1:c.1018G>A, NM_001172818.1:c.1663G>A, NP_002624.2:p.Ala537Thr, NP_001166290.1:p.Ala340Thr, NP_001166289.1:p.Ala555Thr

Select item 14823682279.

rs1482368227 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:63634985 (GRCh38)
1:64100656 (GRCh37)
Canonical SPDI:: NC_000001.11:63634984:A:G
Gene:: PGM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.63634985A>G, NC_000001.10:g.64100656A>G, NG_016966.1:g.46710A>G, NM_002633.3:c.839A>G, NM_002633.2:c.839A>G, NM_001172819.2:c.248A>G, NM_001172819.1:c.248A>G, NM_001172818.1:c.893A>G, NP_002624.2:p.Glu280Gly, NP_001166290.1:p.Glu83Gly, NP_001166289.1:p.Glu298Gly

Select item 148188393410.

rs1481883934 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:63648597 (GRCh38)
1:64114268 (GRCh37)
Canonical SPDI:: NC_000001.11:63648596:G:T
Gene:: PGM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.63648597G>T, NC_000001.10:g.64114268G>T, NG_016966.1:g.60322G>T, NM_002633.3:c.1225G>T, NM_002633.2:c.1225G>T, NM_001172819.2:c.634G>T, NM_001172819.1:c.634G>T, NM_001172818.1:c.1279G>T, NP_002624.2:p.Val409Leu, NP_001166290.1:p.Val212Leu, NP_001166289.1:p.Val427Leu

Select item 147970546511.

rs1479705465 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:63623332 (GRCh38)
1:64089003 (GRCh37)
Canonical SPDI:: NC_000001.11:63623331:C:T
Gene:: PGM1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.63623332C>T, NC_000001.10:g.64089003C>T, NG_016966.1:g.35057C>T, NM_001172818.1:c.-129C>T

Select item 147953033412.

rs1479530334 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 1:63638779 (GRCh38)
1:64104450 (GRCh37)
Canonical SPDI:: NC_000001.11:63638778:G:A,NC_000001.11:63638778:G:C,NC_000001.11:63638778:G:T
Gene:: PGM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.63638779G>A, NC_000001.11:g.63638779G>C, NC_000001.11:g.63638779G>T, NC_000001.10:g.64104450G>A, NC_000001.10:g.64104450G>C, NC_000001.10:g.64104450G>T, NG_016966.1:g.50504G>A, NG_016966.1:g.50504G>C, NG_016966.1:g.50504G>T, NM_002633.3:c.1123G>A, NM_002633.3:c.1123G>C, NM_002633.3:c.1123G>T, NM_002633.2:c.1123G>A, NM_002633.2:c.1123G>C, NM_002633.2:c.1123G>T, NM_001172819.2:c.532G>A, NM_001172819.2:c.532G>C, NM_001172819.2:c.532G>T, NM_001172819.1:c.532G>A, NM_001172819.1:c.532G>C, NM_001172819.1:c.532G>T, NM_001172818.1:c.1177G>A, NM_001172818.1:c.1177G>C, NM_001172818.1:c.1177G>T, NP_002624.2:p.Gly375Arg, NP_002624.2:p.Gly375Arg, NP_002624.2:p.Gly375Trp, NP_001166290.1:p.Gly178Arg, NP_001166290.1:p.Gly178Arg, NP_001166290.1:p.Gly178Trp, NP_001166289.1:p.Gly393Arg, NP_001166289.1:p.Gly393Arg, NP_001166289.1:p.Gly393Trp

Select item 147926499013.

rs1479264990 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:63659601 (GRCh38)
1:64125272 (GRCh37)
Canonical SPDI:: NC_000001.11:63659600:C:G
Gene:: PGM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.63659601C>G, NC_000001.10:g.64125272C>G, NG_016966.1:g.71326C>G, NM_002633.3:c.1615C>G, NM_002633.2:c.1615C>G, NM_001172819.2:c.1024C>G, NM_001172819.1:c.1024C>G, NM_001172818.1:c.1669C>G, NP_002624.2:p.Leu539Val, NP_001166290.1:p.Leu342Val, NP_001166289.1:p.Leu557Val

Select item 147856231314.

rs1478562313 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:63636304 (GRCh38)
1:64101975 (GRCh37)
Canonical SPDI:: NC_000001.11:63636303:C:T
Gene:: PGM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000001.11:g.63636304C>T, NC_000001.10:g.64101975C>T, NG_016966.1:g.48029C>T, NM_002633.3:c.944C>T, NM_002633.2:c.944C>T, NM_001172819.2:c.353C>T, NM_001172819.1:c.353C>T, NM_001172818.1:c.998C>T, NP_002624.2:p.Ala315Val, NP_001166290.1:p.Ala118Val, NP_001166289.1:p.Ala333Val

Select item 147853140315.

rs1478531403 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:63630060 (GRCh38)
1:64095731 (GRCh37)
Canonical SPDI:: NC_000001.11:63630059:C:T
Gene:: PGM1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.63630060C>T, NC_000001.10:g.64095731C>T, NG_016966.1:g.41785C>T, NM_002633.3:c.528C>T, NM_002633.2:c.528C>T, NM_001172819.2:c.-64C>T, NM_001172819.1:c.-64C>T, NM_001172818.1:c.582C>T

Select item 147828207116.

rs1478282071 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:63654349 (GRCh38)
1:64120020 (GRCh37)
Canonical SPDI:: NC_000001.11:63654348:C:T
Gene:: PGM1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.63654349C>T, NC_000001.10:g.64120020C>T, NG_016966.1:g.66074C>T, NM_002633.3:c.1482C>T, NM_002633.2:c.1482C>T, NM_001172819.2:c.891C>T, NM_001172819.1:c.891C>T, NM_001172818.1:c.1536C>T

Select item 147823185617.

rs1478231856 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:63638795 (GRCh38)
1:64104466 (GRCh37)
Canonical SPDI:: NC_000001.11:63638794:G:A
Gene:: PGM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.63638795G>A, NC_000001.10:g.64104466G>A, NG_016966.1:g.50520G>A, NM_002633.3:c.1139G>A, NM_002633.2:c.1139G>A, NM_001172819.2:c.548G>A, NM_001172819.1:c.548G>A, NM_001172818.1:c.1193G>A, NP_002624.2:p.Gly380Glu, NP_001166290.1:p.Gly183Glu, NP_001166289.1:p.Gly398Glu

Select item 147800768518.

rs1478007685 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:63636291 (GRCh38)
1:64101962 (GRCh37)
Canonical SPDI:: NC_000001.11:63636290:G:A
Gene:: PGM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.63636291G>A, NC_000001.10:g.64101962G>A, NG_016966.1:g.48016G>A, NM_002633.3:c.931G>A, NM_002633.2:c.931G>A, NM_001172819.2:c.340G>A, NM_001172819.1:c.340G>A, NM_001172818.1:c.985G>A, NP_002624.2:p.Ala311Thr, NP_001166290.1:p.Ala114Thr, NP_001166289.1:p.Ala329Thr

Select item 147620300819.

rs1476203008 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:63651679 (GRCh38)
1:64117350 (GRCh37)
Canonical SPDI:: NC_000001.11:63651678:G:A
Gene:: PGM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.63651679G>A, NC_000001.10:g.64117350G>A, NG_016966.1:g.63404G>A, NM_002633.3:c.1291G>A, NM_002633.2:c.1291G>A, NM_001172819.2:c.700G>A, NM_001172819.1:c.700G>A, NM_001172818.1:c.1345G>A, NP_002624.2:p.Glu431Lys, NP_001166290.1:p.Glu234Lys, NP_001166289.1:p.Glu449Lys

Select item 147522140620.

rs1475221406 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:63623592 (GRCh38)
1:64089263 (GRCh37)
Canonical SPDI:: NC_000001.11:63623591:C:T
Gene:: PGM1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.63623592C>T, NC_000001.10:g.64089263C>T, NG_016966.1:g.35317C>T, NM_001172818.1:c.132C>T

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